Rare Disease Library

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Amaurosis-hypertrichosis syndrome

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Autosomal ichthyosis syndrome

Autosomal recessive congenital ichthyosis

ARCI

Congenital cataract-anterior segment dysgenesis syndrome

Congenital cataract-anterior segment mesenchymal dysgenesis syndrome · Congenital cataract-ASD syndrome

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital hypothalamic hamartoma syndrome

CHHS

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ELOVL4-related neuro ichthyosis · Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital myasthenic syndrome

CMS

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short bowel syndrome

Congenital short QT syndrome

Congenital SQTS

Congenital varicella syndrome

Mother-to-child transmission of varicella syndrome · Antenatal varicella virus infection

Congenital vascular bone syndrome

Fanconi syndrome-ichthyosis-dysmorphism syndrome

Deal-Barrat-Dillon syndrome

Harlequin ichthyosis

HI · Ichthyosis congenita, Harlequin type

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hypertrichosis lanuginosa congenita

Hypertrichosis universalis

Hypertrichosis-acromegaloid facial appearance syndrome

HAFF · Hypertrichosis-acromegaloid facial features syndrome

Hypomyelination-congenital cataract syndrome

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Ichthyosis-male hypogonadism syndrome

Ichthyosis-oral and digital anomalies syndrome

Clayton Smith-Donnai syndrome

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

Lethal congenital contracture syndrome

LCCS

Marie Unna hereditary hypotrichosis

Hypotrichosis, Marie Unna type · MUHH

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

OBSOLETE: Congenital cataract-ichthyosis syndrome

OBSOLETE: Congenital ichthyosis with trichothiodystrophy

Oley syndrome

Congenital hypotrichosis-milia syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Self-improving collodion baby

Self-healing collodion baby · SHCB

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Synaptic congenital myasthenic syndrome

Ventriculomegaly-cystic kidney disease

Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD

X-linked ichthyosis syndrome